NM_152564.4:c.11251del

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  2. NM_152564.4:c.11251del

HGVS Expressions

  • NG_007098.2:g.860060del
  • NM_152564.4:c.11251del
  • NP_689777.3:p.Asn3751ThrfsTer102
  • NC_000008.11:g.99868325del

Associated Genes

Vacuolar Protein Sorting 13, Yeast, Homolog of, B
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

1073212

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216550.6.1Lebanon2PathogenicCohen SyndromeProkudin et al. 2015
216550.6.2Lebanon2PathogenicCohen SyndromeProkudin et al. 2015 Sibling of 216550.6.1
216550.6.3Lebanon1PathogenicProkudin et al. 2015 Mother of 216550.6.1
216550.6.4Lebanon1PathogenicProkudin et al. 2015 Father of 216550.6.1
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Contributors

  • Pratibha Nair: 29.06.2020

Edit History

  • Pratibha Nair: 21.11.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 29.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.